Canonical Allele Identifier: CA528646686
Community Standard Title: NM_006147.4(IRF6):c.-76+1448G>C
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209804499C>G , CM000663.2:g.209804499C>G GRCh38
NC_000001.10:g.209977844C>G , CM000663.1:g.209977844C>G GRCh37
NC_000001.9:g.208044467C>G NCBI36
NG_007081.2:g.6636G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.-76+1448G>C MANE Select NP_006138.1:n.-76+1448G>C
ENST00000367021.8:c.-76+1448G>C MANE Select ENSP00000355988.3:n.-76+1448G>C
NM_001206696.1:c.-112+1448G>C NP_001193625.1:n.-112+1448G>C
NM_001206696.2:c.-112+1448G>C NP_001193625.1:n.-112+1448G>C
NM_006147.3:c.-76+1448G>C NP_006138.1:n.-76+1448G>C
ENST00000367021.7:c.-76+1448G>C ENSP00000355988.3:n.-76+1448G>C
ENST00000542854.5:c.-112+1448G>C ENSP00000440532.1:n.-112+1448G>C
ENST00000696133.1:c.-76+1448G>C ENSP00000512426.1:n.-76+1448G>C
ENST00000696134.1:c.-76+1448G>C ENSP00000512427.1:n.-76+1448G>C